ORPHA:308386

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Synonyms: MOCOD type A · Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Status: active

This disease is described under Encephalopathy due to sulfite oxidase deficiency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	MOCOD type A · Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
fr	Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type A	Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type A · MOCOD type A
de	Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ A	MOCOD Typ A · Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ A, kombinierter Mangel
es	Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo A	Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo A · MOCOD tipo A
it	Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo A	Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo A · MOCOD, tipo A
nl	Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type A	Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type A · MOCOD type A
pt	Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo A
pl	Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu A	MOCOD typu A · Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu A
cs	Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ A	Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ A · MOCOD, typ A
uk	Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип А	Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу А · MOCOD тип A
zh	钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症A型	A型MOCOD
tr	Molibden kofaktör eksikliği tip A nedeniyle sülfit oksidaz eksikliği	Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip A'nın kombine eksikliği · MOCOD tip A

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	252150	E		validated
ICD-10	E72.1	NTBT	attributed	validated
ICD-11	5C50.B	NTBT	index	validated
MONDO	0009643	E		validated
UMLS	C5679957	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:99732Sulfite oxidase deficiency due to molybdenum cofactor deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MOCS1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7190	ENSG00000124615	603707	6p21.2	molybdenum cofactor synthesis 1

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Europe	Class only	Validated	ORPHANET_European Medicines Agency 2010[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/308386
This record as JSON: /data/d/308386.json